Canonical Allele Identifier: CA20757755
Gene:

Linked Data

dbSNP Id: rs1047177112
gnomAD v2: 1-34989292-A-G
gnomAD v3: 1-34523691-A-G
gnomAD v4: 1-34523691-A-G
MyVariant Identifiers: chr1:g.34989292A>G (hg19) chr1:g.34523691A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34523691A>G , CM000663.2:g.34523691A>G GRCh38
NC_000001.10:g.34989292A>G , CM000663.1:g.34989292A>G GRCh37
NC_000001.9:g.34761879A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_947171.1:n.1073+23888T>C
XR_001737964.1:n.991+23888T>C
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